Pentz Rowan, Jones Kevin, Mesterman Ronit, RamachandranNair Rajesh, Otsubo Hiroshi, Ochi Ayako, Yau Ivanna, Donner Elizabeth J, Ibrahim George M, Jain Puneet, Whitney Robyn
The Division of Neurology, Department of Pediatrics, McMaster University, Hamilton, ON, Canada.
The Division of Neurology, Department of Pediatrics, Toronto University, Toronto, Canada.
Epilepsy Behav Rep. 2025 Jul 4;31:100802. doi: 10.1016/j.ebr.2025.100802. eCollection 2025 Sep.
Brain tumours are a rare cause of infantile epileptic spasm syndrome (IESS). Epilepsy surgery may be utilized in refractory IESS due to tumours, although reports are limited. We report an illustrative case of IESS which resolved after tumour resection and performed a literature review of all reported cases of brain tumours causing IESS with hypsarrhythmia. We present a 10-month-old girl with drug-resistant symmetric epileptic spasms (ES). Initial EEG showed symmetric hypsarrhythmia and brain MRI demonstrated a left temporal lobe tumour. Despite non-focal clinical and EEG findings, she underwent tumour resection at 21 months (ganglioglioma). She subsequently had resolution of ES and hypsarrhythmia and developmental gains. Twenty-seven published cases of brain tumours and IESS were reviewed. ES were refractory to medical management in 74 % of reported cases (17/23). ES were symmetric in 17/21 (81 %) and asymmetric in 4/21 (19 %) specified cases. Hypsarrhythmia pattern was asymmetric in 10/20 (50 %) specified cases. Of 21 surviving patients who underwent surgery, 13 (62 %) were seizure free at follow-up and only 1 (5 %) had no improvement. Developmental outcomes were available in 19/21 (90 %) surviving surgical patients and 10/19 had improvements (52 %); 6/19 had normalized development (32 %). Various tumour types were reported and a temporal or frontal location was most common. Brain tumours can cause IESS with or without clinical or EEG focality and are amenable to surgical treatment. We emphasize that the absence of focal signs should not delay surgical assessment for patients with refractory IESS and brain tumours.
脑肿瘤是婴儿痉挛症（IESS）的罕见病因。对于因肿瘤导致的难治性IESS，可采用癫痫手术治疗，不过相关报道有限。我们报告了一例IESS病例，该病例在肿瘤切除后症状缓解，并对所有报道的伴有高峰节律紊乱的脑肿瘤导致IESS的病例进行了文献综述。我们介绍了一名10个月大患有耐药性对称性癫痫痉挛（ES）的女孩。初始脑电图显示对称性高峰节律紊乱，脑部磁共振成像显示左侧颞叶肿瘤。尽管临床和脑电图检查未发现局灶性表现，但她在21个月时接受了肿瘤切除术（神经节细胞胶质瘤）。随后她的ES和高峰节律紊乱症状消失，发育也取得了进步。我们回顾了27例已发表的脑肿瘤与IESS的病例。在74%（17/23）的报道病例中，ES对药物治疗无效。在明确的病例中，17/21（81%）的ES为对称性，4/21（19%）为不对称性。在明确的病例中，10/20（50%）的高峰节律紊乱模式为不对称性。在21例接受手术的存活患者中，13例（62%）在随访时无癫痫发作，只有1例（5%）没有改善。19/21（90%）存活的手术患者有发育结局数据，其中10/19（52%）有改善；6/19（32%）发育正常。报道的肿瘤类型多样，最常见的位置是颞叶或额叶。脑肿瘤可导致有或无临床及脑电图局灶性表现的IESS，且适合手术治疗。我们强调，对于难治性IESS和脑肿瘤患者，缺乏局灶性体征不应延迟手术评估。
